Abstract
Fragile X syndrome (FXS) is the most common monogenic disease that causes intellectual disability and autism spectrum disorder (ASD), causing moderate to severe mental retardation with unusual facial features and connective tissue abnormalities. Fragile X syndrome is caused by the mutation of FMR1 gene, resulting in the reduction or loss of its product, fragile X mental retardation protein (FMRP) .The diagnosis is mainly based on the detection of FMR1 gene , and there is no effective treatment for fragile X syndrome. Therefore, it is very important to strengthen genetic counseling and prenatal diagnosis, and effectively reduce the incidence of fragile X syndrome. Key words: Fragile X syndrome/GE/DI/TH; Fragile X mental retardation protein/GE; Prenatal diagnosis
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.